NHGI Strategic Plan - 2011Motivation and Inspiration

Green ED, Guyer MS. Nature 2011; 470:204-13.

How are we going to do this?

What is actually going on in the field?

What role should NIH/NHGRI play to support and accelerate progress?

Genomic Medicine Institutes Colloquium

June 29, 2011, Chicago• MCW• Mt Sinai• Marshfield Cliniic• Northwestern• Loyola• Cleveland Clinic• UCSD• Morehouse• Duke• Maryland• Intermountain

Healthcare

• UAB• Geisinger• Baylor• OSU• Mayo Clinic• Partners Healthcare• U Chicago• Penn• St Judes• Vanderbilt• Johns Hopkins• Washington

• NHGRI• NCI• NIMH• NINDS• NHLBI

• ~ 40 Attendees

Tasks

• Identify areas of active translational and implementation research across the various groups and determine potential commonalities and uniqueness

• Define demonstration projects in genomic translation ready for investigation now or in the near future and what is needed to actualize them

• Stimulate development of a consortium for conducting genomic translational research

Another Set of Questions

• What are the barriers at your institution to clinical adoption of genomics in medicine?

• What are the solutions you have been able to achieve and how?

• What role can NHGRI play to facilitate translation and adoption of genomics into medicine– what  infrastructure should NHGRI

support?– what research programs should NHGRI

pursue?

Barriers -1

• Lack of evidence for benefit/value• Institution and physician acceptance• Education of patients, physicians,

public • Availability of testing, licensure, CLIA

certification• EMR integration of genomic results,

custom reporting tools and decision support software

• Optimizing turnaround time

Barriers - 2

• Need for genetic counseling • Consent• Improving information for at-risk

family members• Sample availability and biobanking• Recruitment for genetic studies• Logistics of follow-up, loss to follow-

up• Research funding and reimbursement• How do we know a genetic signal

applies to our population?

Keeping Our Eye on the Ball…

Green ED, Guyer MS. Nature 2011; 470:204-13.

Possible Outcomes of Chicago Meeting

• Enhanced appreciation and understanding of ongoing genomic medicine efforts NIH-wide

• Writing groups • Perspectives papers• Best practice guidelines

• Planning groups for workshops or conferences

• Loose confederation or consortium for collaborative studies

Best practices

Leveraging Existing Efforts• Over 20 genomic medicine centers at

varying stages of implementation• Supported through multiple NIH and

institutional mechanisms• Numerous similar and overlapping

efforts that would benefit from collaboration

• Numerous shared needs • Would benefit from periodic interactions

and degree of coordination, consensus building

• Critical to facilitate but not impede

Proposed Goals of Genomic Medicine Effort

• Identify research directions and priorities

• Promote collaboration among existing groups

• Stimulate investigator-initiated efforts and issue funding solicitations as needed

• Learn more about genomic medicine centers at NHGRI/NIH staff level by visiting

• Establish Genomic Medicine Working Group as subcommittee of Council• Rotating membership• At least one Council member• Report back to Council regularly

Genomic Medicine Working GroupPossible Tasks

• Identify topics for subsequent meetings of genomic medicine groups, plan those meetings

• Identify topics for separate working groups or workshops

• Monitor production of white papers, assist and/or prod as needed

• Review progress in given area for readiness for exploration in subsequent working groups

Genomic Medicine Working GroupPossible Tasks (cont)

• Review progress overall in genomic medicine implementation and identify gaps, opportunities

• Identify related efforts and integrate as appropriate• ClinVar and actionable variants• eMERGE and clinical decision support,

pilot implementation studies• Clinical Sequencing Exploratory

program• Trans-NIH dissemination network• Clinical Translational Science Awards

Current/Planned Working Groups and Workshops

• Databases and actionable variants Dec 1-2, 2011

• Collaborative demonstration projectsDec 5-6, 2011 (this meeting!)

• Standardization, quality control of clinical genomic testing and reporting

May 3-4, 2012• Evidence development (discovery,

validation) for actionable variantsSep 2012?

Potential Working Groups and Workshops: Infrastructure and

Research Needs • Evidence development for

effectiveness of genomic medicine• Tool development for genomic

medicine (CDS, clinical algorithms)• Policy needs (consent, CLIA,

reimbursement) • Education, training, user support

Larson, G. The Complete Far Side. 2003.

Avoiding Meeting Hell

Proposed Genomic Medicine II (Fall 2011)

• Broaden involvement of relevant groups

• Identify low-cost pilot projects to build on similar efforts across sites

• Convene working groups and workshop planning to address obst/opport from GM I

• Identify additional groups to participate

• Determine appropriate next steps for group as whole (meetings, white papers?)